Rare Germline Variants in ATM Predispose to Prostate Cancer: A PRACTICAL Consortium Study.
Rare Germline Variants in ATM Predispose to Prostate Cancer: A PRACTICAL Consortium Study.
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DOI：
10.1016/j.euo.2020.12.001
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发表时间：
2021-08
影响因子：
8.2
通讯作者：
Kote-Jarai Z
中科院分区：
文献类型：
--
作者：
Karlsson Q;Brook MN;Dadaev T;Wakerell S;Saunders EJ;Muir K;Neal DE;Giles GG;MacInnis RJ;Thibodeau SN;McDonnell SK;Cannon-Albright L;Teixeira MR;Paulo P;Cardoso M;Huff C;Li D;Yao Y;Scheet P;Permuth JB;Stanford JL;Dai JY;Ostrander EA;Cussenot O;Cancel-Tassin G;Hoegel J;Herkommer K;Schleutker J;Tammela TLJ;Rathinakannan V;Sipeky C;Wiklund F;Grönberg H;Aly M;Isaacs WB;Dickinson JL;FitzGerald LM;Chua MLK;Nguyen-Dumont T;PRACTICAL Consortium;Schaid DJ;Southey MC;Eeles RA;Kote-Jarai Z
Germline ATM mutations are suggested to contribute to predisposition to prostate cancer (PrCa). Previous studies have had inadequate power to estimate variant effect sizes. To precisely estimate the contribution of germline ATM mutations to PrCa risk. We analysed next-generation sequencing data from 13 PRACTICAL study groups comprising 5560 cases and 3353 controls of European ancestry. Variant Call Format files were harmonised, annotated for rare ATM variants, and classified as tier 1 (likely pathogenic) or tier 2 (potentially deleterious). Associations with overall PrCa risk and clinical subtypes were estimated. PrCa risk was higher in carriers of a tier 1 germline ATM variant, with an overall odds ratio (OR) of 4.4 (95% confidence interval [CI]: 2.0–9.5). There was also evidence that PrCa cases with younger age at diagnosis (<65 yr) had elevated tier 1 variant frequencies (pdifference = 0.04). Tier 2 variants were also associated with PrCa risk, with an OR of 1.4 (95% CI: 1.1–1.7). Carriers of pathogenic ATM variants have an elevated risk of developing PrCa and are at an increased risk for earlier-onset disease presentation. These results provide information for counselling of men and their families. In this study, we estimated that men who inherit a likely pathogenic mutation in the ATM gene had an approximately a fourfold risk of developing prostate cancer. In addition, they are likely to develop the disease earlier.
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影响因子：
8.8
作者：
Cybulski, C.;Wokolorczyk, D.;Kluzniak, W.;Jakubowska, A.;Gorski, B.;Gronwald, J.;Huzarski, T.;Kashyap, A.;Byrski, T.;Debniak, T.;Golab, A.;Gliniewicz, B.;Sikorski, A.;Switala, J.;Borkowski, T.;Borkowski, A.;Antczak, A.;Wojnar, L.;Przybya, J.;Sosnowski, M.;Malkiewicz, B.;Zdrojowy, R.;Sikorska-Radek, P.;Matych, J.;Wilkosz, J.;Rozanski, W.;Kis, J.;Bar, K.;Bryniarski, P.;Paradysz, A.;Jersak, K.;Niemirowicz, J.;Slupski, P.;Jarzemski, P.;Skrzypczyk, M.;Dobruch, J.;Domagala, P.;Narod, S. A.;Lubinski, J.
通讯作者：
Lubinski, J.
DOI：
10.1016/j.radonc.2016.06.017
发表时间：
2016-12
期刊：
Radiotherapy and oncology : journal of the European Society for Therapeutic Radiology and Oncology
影响因子：
--
作者：
Andreassen CN;Rosenstein BS;Kerns SL;Ostrer H;De Ruysscher D;Cesaretti JA;Barnett GC;Dunning AM;Dorling L;West CML;Burnet NG;Elliott R;Coles C;Hall E;Fachal L;Vega A;Gómez-Caamaño A;Talbot CJ;Symonds RP;De Ruyck K;Thierens H;Ost P;Chang-Claude J;Seibold P;Popanda O;Overgaard M;Dearnaley D;Sydes MR;Azria D;Koch CA;Parliament M;Blackshaw M;Sia M;Fuentes-Raspall MJ;Ramon Y Cajal T;Barnadas A;Vesprini D;Gutiérrez-Enríquez S;Mollà M;Díez O;Yarnold JR;Overgaard J;Bentzen SM;Alsner J;International Radiogenomics Consortium (RgC)
通讯作者：
International Radiogenomics Consortium (RgC)
影响因子：
30.8
作者：
Kircher, Martin;Witten, Daniela M.;Jain, Preti;O'Roak, Brian J.;Cooper, Gregory M.;Shendure, Jay
通讯作者：
Shendure, Jay
影响因子：
5.8
作者：
Li, Heng
通讯作者：
Li, Heng
影响因子：
2
作者：
Bradburn, Michael J.;Deeks, Jonathan J.;Localio, A. Russell
通讯作者：
Localio, A. Russell